ZRSR2 (zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8233
Gene name Zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2
Gene symbol ZRSR2
Synonyms (NCBI Gene)
OFD21U2AF1-RS2U2AF1L2U2AF1RS2URPZC3H22
Chromosome X
Chromosome location Xp22.2
Summary This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3` splice site in pre-mRNA splicing, and may play a role in network interactions
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0000245 Process Spliceosomal complex assembly IMP 21041408
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IEA
GO:0000398 Process MRNA splicing, via spliceosome IMP 9237760
GO:0003676 Function Nucleic acid binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300028 23019 ENSG00000169249
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15696
Protein name U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2 (CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 2) (Renal carcinoma antigen NY-REN-20) (U2(RNU2) small nuclear RNA auxiliary factor 1-like 2) (
Protein function Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts with the 3'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing. Recruited to U12 pre-mRNAs i
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00642 zf-CCCH 167 → 193 Zinc finger C-x8-C-x5-C-x3-H type (and similar) Family
PF00076 RRM_1 240 → 298 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00642 zf-CCCH 307 → 332 Zinc finger C-x8-C-x5-C-x3-H type (and similar) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9237760}.
Sequence 
MAAPEKMTFPEKPSHKKYRAALKKEKRKKRRQELARLRDSGLSQKEEEEDTFIEEQQLEE
EKLLERERQRLHEEWLLREQKAQEEFRIKKEKEEAAKKRQEEQERKLKEQWEEQQRKERE
EEEQKRQEKKEKEEALQKMLDQAENELENGTTWQNPEPPVDFRVMEKDRANCPFYSKTGA
CRFGDRCSRKHNFPTSSPTLLIKSMFTTFGMEQCRRDDYDPDASLEYSEEETYQQFLDFY
EDVLPEFKNVGKVIQFKVSCNLEPHLRGNVYVQYQSEEECQAALSLFNGRWYAGRQLQCE
FCPVTRWKMAICGLFEIQQCPRGKHCNFLHVFRNPNNEFWEANRDIYLSPDRTGSSFGKN
SERRERMGHHDDYYSRLRGRRNPSPDHSYKRNGESERKSSRHRGKKSHKRTSKSRERHNS
RSRGRNRDRSRDRSRGRGSRSRSRSRSRRSRRSRSQSSSRSRSRGRRRSGNRDRTVQSPK
SK
Sequence length 482
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    mRNA Splicing - Minor Pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Heart, malformation of Likely pathogenic rs1933151965 RCV001257352
Holoprosencephaly sequence Likely pathogenic rs1933151965 RCV001257352
Median cleft lip and palate Likely pathogenic rs1933151965 RCV001257352
Orofaciodigital syndrome 21 Likely pathogenic rs1933151965 RCV004771808
Show/Hide Text Mining Associations (23)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Macrocytic Associate 35351745
Atypical Squamous Cells of the Cervix Associate 35351745
Behcet Syndrome Associate 35351745
Chromosome 8 trisomy Associate 28220884
Disseminated Intravascular Coagulation Associate 40066790
Heart Arrest Associate 40066790
Hematoma Associate 40066790
Hypergammaglobulinemia Associate 36445600
Immotile cilia syndrome due to excessively long cilia Associate 38158857
Inflammation Associate 34615655